Literature DB >> 32969584

HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes.

Gema Garrido, Almudena Fernández, Lluis Montoliu.   

Abstract

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Year:  2020        PMID： 32969584     DOI： 10.1111/pcmr.12929

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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  7 in total

Review 1.  Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Authors:  Muhammad Ikram Ullah
Journal:  Genes (Basel)       Date:  2022-06-16       Impact factor: 4.141

Review 2.  Melanosome Biogenesis in the Pigmentation of Mammalian Skin.

Authors:  Linh Le; Julia Sirés-Campos; Graça Raposo; Cédric Delevoye; Michael S Marks
Journal:  Integr Comp Biol       Date:  2021-10-14       Impact factor: 3.326

Review 3.  Zebrafish Syndromic Albinism Models as Tools for Understanding and Treating Pigment Cell Disease in Humans.

Authors:  Sam J Neuffer; Cynthia D Cooper
Journal:  Cancers (Basel)       Date:  2022-03-30       Impact factor: 6.639

4.  Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Authors:  Ma Thi Huyen Thuong; Luong Thi Lan Anh; Vu Phuong Nhung; Tran Thi Bich Ngoc; Hoang Thu Lan; Doan Kim Phuong; Nguyen Hai Ha; Nong Van Hai; Nguyen Dang Ton
Journal:  J Clin Lab Anal       Date:  2022-07-23       Impact factor: 3.124

5.  AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio).

Authors:  Sam J Neuffer; David Beltran-Cardona; Kevin Jimenez-Perez; Lauren F Clancey; Alexander Brown; Leslie New; Cynthia D Cooper
Journal:  Pigment Cell Melanoma Res       Date:  2022-09       Impact factor: 4.159

6.  Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.

Authors:  C C Kruijt; N E Schalij-Delfos; G C de Wit; R J Florijn; M M van Genderen
Journal:  Sci Rep       Date:  2021-06-02       Impact factor: 4.379

7.  Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Authors:  Muhammad Shakil; Abida Akbar; Nazish Mahmood Aisha; Intzar Hussain; Muhammad Ikram Ullah; Muhammad Atif; Haiba Kaul; Ali Amar; Muhammad Zahid Latif; Muhammad Atif Qureshi; Saqib Mahmood
Journal:  Genes (Basel)       Date:  2022-03-12       Impact factor: 4.096
  7 in total

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